A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6704193



Internal ID9770569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:131086766..131087091hg38UCSC Ensembl
Outerchr2:131844339..131844664hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720771, esv2720778, esv2720774
Supporting Variants
SamplesSSM040
Known GenesFAM168B
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6704193
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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